A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family.

IF 1.6 4区医学 Q3 CLINICAL NEUROLOGY

Neurogenetics Pub Date : 2025-03-11 DOI:10.1007/s10048-025-00814-x

Alassane Baneye Maiga, Abdoulaye Arama, Abdoulaye Yalcouyé, Mohamed Albakaye, Ji Weizhen, Salia Bamba, Oumou Traoré, Moussa Sangaré, Mahamadou Kotioumbé, Samba Ogomaly Djimdé, Modibo K Goita, Salimata Diarra, Mustafa K Khokha, Saquib A Lakhani, Guida Landouré

引用次数: 0

Abstract

Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by ARSA gene variants, affecting central and peripheral nervous systems. While ARSA variants are reported globally, data from sub-Saharan Africa (SSA) are limited. We report the first SSA case, a Malian patient with a rare phenotype: predominant tonic seizures without typical peripheral neuropathy signs. The patient harbored a novel ARSA variant (c.191T > C; p.Phe64Ser), predicted deleterious by in silico tools. This case expands the genetic and phenotypic spectrum of MLD, underscoring the need for genetic studies in underrepresented regions.

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来源期刊

Neurogenetics 医学-临床神经学

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

6 months

期刊介绍： Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.